Papers
RefSeq ID
Protein change
DNA change
1–12 of 120 variants
NM_016951.4
p.L26_A27Splc
c.79-2A>G
NM_016951.4
p.T54S
c.160A>T
NM_016951.4
p.R25Q
c.74G>A
NM_016951.4
p.M1V
c.1A>G
NM_016951.4
p.M1R
c.2T>G
NM_016951.4
p.V4V
c.12G>C
NM_016951.4
p.H10R
c.29A>G
NM_016951.4
p.L28P
c.83T>C
NM_016951.4
p.Y45ins1
c.133_134insTGT
NM_016951.4
p.V55insFs
c.163_164insA
NM_016951.4
p.I56delFs
c.167delT
NM_016951.4
p.L79delFs
c.235delC